Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson’s Disease

Clinical Use of Next-Generation Sequencing in the Diagnosis of Wilson’s Disease

Objective. Wilson’s disease is a disorder of copper metabolism which is fatal without treatment. The great number of disease-causing ATP7B gene mutations and the variable clinical presentation of WD may cause a real diagnostic challenge. The emergence of next-generation sequencing provides a time-sa...

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Main Authors: Dániel Németh, Kristóf Árvai, Péter Horváth, János Pál Kósa, Bálint Tobiás, Bernadett Balla, Anikó Folhoffer, Anna Krolopp, Péter András Lakatos, Ferenc Szalay
Format: Article
Language:English
Published: Hindawi Limited 2016-01-01
Series:Gastroenterology Research and Practice
Online Access:http://dx.doi.org/10.1155/2016/4548039

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